Ricardo Reisin1, Amandine Perrin2, Pablo García-Pavía3,4. 1. Hospital Británico de Buenos Aires, Buenos Aires, Argentina. 2. Shire, Zug, Switzerland. 3. Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain. 4. Francisco de Vitoria University, Madrid, Spain.
Abstract
BACKGROUND: The high variability in clinical manifestations of Fabry disease can lead to delays between symptom onset and correct diagnosis, and between correct diagnosis and initiation of enzyme replacement therapy. We investigated whether these delays have improved in recent years. METHODS: Data were analysed from the Fabry Outcome Survey (FOS; Shire; extracted August 2013) for "index patients", defined as the first patient diagnosed with Fabry disease from a family with several or no additional members registered in FOS. RESULTS: Periods analysed: 2001-2006 vs. 2007-2013, in patients overall and from Europe vs. the rest of the world (ROW). Overall, 598 patients were diagnosed within the study periods. Median age (95% CI) at symptom onset in 2001-2006 and 2007-2013 was 7.0 (5.0-11.0) and 9.0 (6.0-11.0) in children, and 21.0 (15.0-28.0) and 31.0 (26.0-35.0) in adults, respectively. Overall, the delay in diagnosis did not improve, despite showing a trend towards earlier diagnosis in adults (median 14.0 [95% CI 9.0-20.0] vs. 10.5 [8.0-13.0] years) and children (5.0 [1.0-9.0] vs. 4.0 [0.0-8.0] years). In contrast, the delay in treatment onset significantly decreased from 2001-2006 to 2007-2013 in children (4.3 [2.0-7.0] vs. 1.0 [0.8-1.4] year; P<.001) and adults (2.1 [1.3-3.2] vs. 0.9 [0.8-1.1] years; P<.001). Geographically, the delay in treatment onset significantly decreased in the ROW among children (5.3 [4.2-8.0] vs. 1.0 [0.8-1.4] year; P<.001) and adults (5.4 [4.8-6.0] vs. 1.1 [0.9-1.1] years; P<.001), but it did not change in Europe. CONCLUSION: We found that the delay in diagnosis has not improved substantially whereas the delay in treatment onset has improved in recent years.
BACKGROUND: The high variability in clinical manifestations of Fabry disease can lead to delays between symptom onset and correct diagnosis, and between correct diagnosis and initiation of enzyme replacement therapy. We investigated whether these delays have improved in recent years. METHODS: Data were analysed from the Fabry Outcome Survey (FOS; Shire; extracted August 2013) for "index patients", defined as the first patient diagnosed with Fabry disease from a family with several or no additional members registered in FOS. RESULTS: Periods analysed: 2001-2006 vs. 2007-2013, in patients overall and from Europe vs. the rest of the world (ROW). Overall, 598 patients were diagnosed within the study periods. Median age (95% CI) at symptom onset in 2001-2006 and 2007-2013 was 7.0 (5.0-11.0) and 9.0 (6.0-11.0) in children, and 21.0 (15.0-28.0) and 31.0 (26.0-35.0) in adults, respectively. Overall, the delay in diagnosis did not improve, despite showing a trend towards earlier diagnosis in adults (median 14.0 [95% CI 9.0-20.0] vs. 10.5 [8.0-13.0] years) and children (5.0 [1.0-9.0] vs. 4.0 [0.0-8.0] years). In contrast, the delay in treatment onset significantly decreased from 2001-2006 to 2007-2013 in children (4.3 [2.0-7.0] vs. 1.0 [0.8-1.4] year; P<.001) and adults (2.1 [1.3-3.2] vs. 0.9 [0.8-1.1] years; P<.001). Geographically, the delay in treatment onset significantly decreased in the ROW among children (5.3 [4.2-8.0] vs. 1.0 [0.8-1.4] year; P<.001) and adults (5.4 [4.8-6.0] vs. 1.1 [0.9-1.1] years; P<.001), but it did not change in Europe. CONCLUSION: We found that the delay in diagnosis has not improved substantially whereas the delay in treatment onset has improved in recent years.
Authors: Raffaele Manna; Roberto Cauda; Sandro Feriozzi; Giovanni Gambaro; Antonio Gasbarrini; Didier Lacombe; Avi Livneh; Alberto Martini; Huri Ozdogan; Antonio Pisani; Eleonora Riccio; Elena Verrecchia; Lorenzo Dagna Journal: Intern Emerg Med Date: 2017-07-19 Impact factor: 3.397
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